TY - JOUR
T1 - Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome
T2 - Five Danish patients with novel variants in AHDC1
AU - Faergeman, Soren L
AU - Bojesen, Anders B
AU - Rasmussen, Maria
AU - Becher, Naja
AU - Andreasen, Lotte
AU - Andersen, Brian N
AU - Erbs, Emilie
AU - Lildballe, Dorte L
AU - Nielsen, Jens Erik K
AU - Zilmer, Monica
AU - Hammer, Trine Bjørg
AU - Andersen, Mikkel Ø
AU - Brasch-Andersen, Charlotte
AU - Fagerberg, Christina R
AU - Illum, Niels O
AU - Thorup, Mette B
AU - Gregersen, Pernille A
N1 - Copyright © 2021. Published by Elsevier Masson SAS.
PY - 2021/9
Y1 - 2021/9
N2 - Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.
AB - Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.
U2 - 10.1016/j.ejmg.2021.104280
DO - 10.1016/j.ejmg.2021.104280
M3 - Article
C2 - 34229113
SN - 1769-7212
VL - 64
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 9
M1 - 104280
ER -